CD3gamma deficiency

Term ID

DOID:0060018

Synonyms

Definition

A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. https://www.ncbi.nlm.nih.gov/pubmed/16264327

References

Ontology

Human Disease   ( DOID:0060018 )